Varaico: Literature-Extracted Genetic Variants

SATB2

277 papers

RefSeq Summary

This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this...

Pfam Domains

ULDaa 58–156UCSCUbiquitin-like oligomerisation domain of SATB

CUTLaa 162–233UCSCCUT1-like DNA-binding domain of SATB

CUTaa 355–434UCSCCUT domain

CUTaa 478–557UCSCCUT domain

Homeodomainaa 615–672UCSCHomeodomain

Gene Aliases

HGNC Name

SATB homeobox 2

HGNC Alias Symbols

KIAA1034; FLJ21474

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001172509.2

p.L415P

c.1244T>C

Surrounding Variants

1 paper

NM_001172509.2

p.N414_L415del2

c.1240_1244del6

1 paper

NM_001172509.2

p.M418V

c.1252A>G

3 papers

NM_001172509.2

p.M418R

c.1253T>G

1 paper

NM_001172509.2

p.S410_L411del2

c.1228_1232del6

5 papers

NM_001172509.2

p.Q419*

c.1255C>T

2 papers

NM_001172509.2

p.Q409R

c.1226A>G

1 paper

NM_001172509.2

p.R405L

c.1214G>T

2 papers

NM_001172509.2

p.R405Q

c.1214G>A

1 paper

NM_001172509.2

p.E426D

c.1278A>T

1 paper

NM_001172509.2

p.E426D

c.1278A>C

1 paper

NM_001172509.2

p.V427L

c.1279G>C

1 paper

NM_001172509.2

p.E428V

c.1283A>T